Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Arginine vasopressin receptor 2

Mutations in the vasopressin receptor 2 gene are responsible for x-linked nephrogenic diabetes insipidus.

Gene Structure

The AVPR2 gene encoding the arginine vasopressin receptor 2 is located on the X chromosome (Xq28). It spans about 2.2kb and consists of 3 exons.

Expression

The ADH receptor (V2) was predominantly investigated in kidney's collecting duct cells, where it regulates vasopressin dependent urine concentration. Physiological investigations in patients with or without known defects of vasopressin receptor 2 (V2) suggest that this receptor plays a role in secretion of coagulation factors and vasodilatation and that cells other than collecting duct epithelia carry this receptor.

Phenotype

Mutations in the AVPR2 gene lead to nephrogenic diabetes insipidus transmitted in an x-lined fashion. This means in each affected family males show a marked polyuria while females are predominantly asymptomatic. They may become symptomatic however during pregnancy when the placenta releases vasopressinase which reduces the plasma vasopressin level.

Gene Regulation

Several different physiological functions are regulated by this receptor among them water excretion, secretion of coagulation factors and vasodilatation.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 20 days
Specimen type genomic DNA
Clinic Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 20 days
Specimen type genomic DNA

Related Diseases:

Nephrogenic diabetes insipidus
AQP2
AVPR2

References:

1.

Fujiwara TM et al. (2005) Molecular biology of hereditary diabetes insipidus.

external link
2.

Nguyen MK et al. (2003) Molecular pathogenesis of nephrogenic diabetes insipidus.

external link
3.

Noda Y et al. (2005) Trafficking mechanism of water channel aquaporin-2.

external link
4.

Gade W et al. (2006) A brief survey of aquaporins and their implications for renal physiology.

external link
5.

Orphanet article

Orphanet ID 118947 external link
6.

NCBI article

NCBI 554 external link
7.

OMIM.ORG article

Omim 300538 external link
8.

Wikipedia article

Wikipedia EN (Vasopressin_receptor_2) external link
Update: Aug. 14, 2020
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